RFC1 Natural History Study
Status: Recruiting
Location: See all (10) locations...
Intervention Type: Other
Study Type: Observational
SUMMARY
This international, multi-center, multi-modal and prospective observational study aims to determine the phenotypic spectrum and the natural progression of the RFC1 repeat expansion disease, and to seek and validate digital, imaging, and molecular biomarkers that aid in diagnosis and serve as outcome measures in future clinical trials of this novel, but frequent ataxia with late adult-onset.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:
• RFC1: genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1
• Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
• Written informed consent AND
• Participants are willing and able to comply with study procedures
Locations
Other Locations
Australia
Department of Neuroscience, Central Clinical School, Monash University
RECRUITING
Melbourne
Brazil
Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo
RECRUITING
São Paulo
France
Service de Neurologie, Hôpitaux Universitaires de Strasbourg
RECRUITING
Strasbourg
Germany
German Center for Neurodegenerative Diseases (DZNE)
RECRUITING
Bonn
Department of Neurology University Hospital Schleswig Holstein
RECRUITING
Lübeck
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
RECRUITING
Tübingen
Italy
Università degli Studi di Napoli 'Federico II', c/o AOU Federico II
RECRUITING
Napoli
IRCCS Fondazione Stella Maris
RECRUITING
Pisa
New Zealand
Centre of Brain Research Neurogenetics Research Clinic, University of Auckland
RECRUITING
Auckland
Turkey
Koç University Hospital, KUTTAM-NDAL
RECRUITING
Istanbul
Contact Information
Primary
Matthis Synofzik, Prof. Dr.
matthis.synofzik@uni-tuebingen.de
+49 7071 29
Backup
Andreas Traschütz, Dr. Dr.
andreas.traschuetz@uni-tuebingen.de
+49 7071 29
Time Frame
Start Date: 2021-12-14
Estimated Completion Date: 2025-12
Participants
Target number of participants: 150
Treatments
RFC1
Participants with genetically confirmed RFC1 repeat expansion disease (ORPHA: 504476; OMIM 102579) will be recruited. Target sample size for the RFC1 cohort is 100 participants.
Unrelated healthy controls
Unrelated healthy controls Healthy controls may undergo the same study procedures as the RFC1 cohort. Target sample size for the control cohort is 50.
Related Therapeutic Areas
Sponsors
Leads: Prof. Dr. Matthis Synofzik